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Title: Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism
Authors: Alsters, SIM
Goldstone, AP
Buxton, JL
Zekavati, A
Sosinsky, A
Yiorkas, AM
Holder, S
Klaber, RE
Bridges, N
van Haelst, MM
le Roux, CW
Walley, AJ
Walters, RG
Mueller, M
Blakemore, AIF
Keywords: Early-onset obesity;Melanocyte-stimulating hormone;Missense mutation;Fat/fat mice;E gene;Pituitary
Issue Date: 2015
Publisher: Public Library of Science
Citation: PLOS ONE, 10(6): pp. 1-13, (2015)
Abstract: Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncating mutation of the CPE gene (c.76_98del; p.E26RfsX68). Analysis detected no CPE expression in whole blood-derived RNA from the proband, consistent with nonsense-mediated decay. The morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism seen in this individual recapitulates phenotypes in the previously described fat/fat and Cpe knockout mouse models, evidencing the importance of this peptide/hormone-processing enzyme in regulating body weight, metabolism, and brain and reproductive function in humans.
ISSN: 1932-6203
Appears in Collections:Dept of Life Sciences Research Papers

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